Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 42

1.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

2.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Jun 19. pii: jnnp-2018-318288. doi: 10.1136/jnnp-2018-318288. [Epub ahead of print] No abstract available.

3.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.

PMID:
29437916
4.

Preference evaluation of ground beef by untrained subjects with three levels of finely textured beef.

Depue SM, Neilson MM, Lusk JL, Mafi G, Norwood FB, Ramanathan R, VanOverbeke D.

PLoS One. 2018 Jan 17;13(1):e0190680. doi: 10.1371/journal.pone.0190680. eCollection 2018.

5.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T.

Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

6.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

7.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

8.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):448-50. doi: 10.1136/jnnp-2014-309349. Epub 2015 May 7. No abstract available.

PMID:
25952333
9.

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J.

Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7.

PMID:
25568292
10.

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, Dilena R, Fumagalli M, Born AP, Clarke D, Lim M, Vincent A, Jungbluth H.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e57. doi: 10.1212/NXI.0000000000000057. eCollection 2015 Feb.

11.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

12.

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1359-65. doi: 10.1136/jnnp-2013-306314. Epub 2014 Apr 2.

PMID:
24695763
13.

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus.

Rossor AM, Perry F, Botha A, Norwood F.

BMJ Case Rep. 2014 Mar 3;2014. pii: bcr2013202849. doi: 10.1136/bcr-2013-202849.

14.

Gliomatosis cerebri type 1 with extensive involvement of the spinal cord and BRAF V600E mutation.

Fernandez-Vega I, Quirk J, Norwood FL, Sibtain NA, Laxton R, Bodi I.

Pathol Oncol Res. 2014 Jan;20(1):215-20. doi: 10.1007/s12253-013-9732-z. Epub 2013 Dec 19.

PMID:
24353007
15.

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Tan SV, Z'Graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H.

Muscle Nerve. 2014 Jun;49(6):845-57. doi: 10.1002/mus.24069. Epub 2014 May 2.

16.

Classifying idiopathic inflammatory myopathies: comparing the performance of six existing criteria.

Linklater H, Pipitone N, Rose MR, Norwood F, Campbell R, Salvarani C, Scott DL, Gordon P.

Clin Exp Rheumatol. 2013 Sep-Oct;31(5):767-9. Epub 2013 Jun 14.

PMID:
23806844
17.

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

Norwood F, Dhanjal M, Hill M, James N, Jungbluth H, Kyle P, O'Sullivan G, Palace J, Robb S, Williamson C, Hilton-Jones D, Nelson-Piercy C.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):538-43. doi: 10.1136/jnnp-2013-305572. Epub 2013 Jun 11.

PMID:
23757420
18.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.

Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.

PMID:
23628358
19.

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):345-53. doi: 10.1136/jnnp-2013-304965. Epub 2013 Apr 19.

PMID:
23606733
20.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
21.

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D.

J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.

22.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.

Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.

PMID:
22473935
23.

Cost of disorders of the brain in Europe 2010.

Gustavsson A, Svensson M, Jacobi F, Allgulander C, Alonso J, Beghi E, Dodel R, Ekman M, Faravelli C, Fratiglioni L, Gannon B, Jones DH, Jennum P, Jordanova A, Jönsson L, Karampampa K, Knapp M, Kobelt G, Kurth T, Lieb R, Linde M, Ljungcrantz C, Maercker A, Melin B, Moscarelli M, Musayev A, Norwood F, Preisig M, Pugliatti M, Rehm J, Salvador-Carulla L, Schlehofer B, Simon R, Steinhausen HC, Stovner LJ, Vallat JM, Van den Bergh P, van Os J, Vos P, Xu W, Wittchen HU, Jönsson B, Olesen J; CDBE2010Study Group.

Eur Neuropsychopharmacol. 2011 Oct;21(10):718-79. doi: 10.1016/j.euroneuro.2011.08.008. Epub 2011 Sep 15. Erratum in: Eur Neuropsychopharmacol. 2012 Mar;22(3):237-8. den Bergh, Peter Van [corrected to Van den Bergh, Peter].

PMID:
21924589
24.

179th ENMC international workshop: pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands.

Norwood F, Rudnik-Schöneborn S.

Neuromuscul Disord. 2012 Feb;22(2):183-90. doi: 10.1016/j.nmd.2011.05.009. Epub 2011 Jul 13. No abstract available.

PMID:
21689937
25.

Production costs and animal welfare for four stylized hog production systems.

Seibert L, Norwood FB.

J Appl Anim Welf Sci. 2011;14(1):1-17. doi: 10.1080/10888705.2011.527596.

PMID:
21191844
26.

The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome.

Maddison P, McConville J, Farrugia ME, Davies N, Rose M, Norwood F, Jungbluth H, Robb S, Hilton-Jones D.

J Neurol Neurosurg Psychiatry. 2011 Jun;82(6):671-3. doi: 10.1136/jnnp.2009.197632. Epub 2010 Apr 14.

PMID:
20392977
27.

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H.

Neuromuscul Disord. 2010 Mar;20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. Epub 2010 Jan 18.

28.

Vulnerability and the 'slippery slope' at the end-of-life: a qualitative study of euthanasia, general practice and home death in The Netherlands.

Norwood F, Kimsma G, Battin MP.

Fam Pract. 2009 Dec;26(6):472-80. doi: 10.1093/fampra/cmp065. Epub 2009 Oct 14.

PMID:
19828573
29.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V.

Brain. 2009 Nov;132(Pt 11):3175-86. doi: 10.1093/brain/awp236. Epub 2009 Sep 18.

30.

Pearls & Oy-sters: resolution of hemichorea following endarterectomy for severe carotid stenosis.

Galea I, Norwood F, Phillips MJ, Shearman C, McMonagle P, Gibb WR.

Neurology. 2008 Dec 9;71(24):e80-2. doi: 10.1212/01.wnl.0000336975.80810.74. No abstract available.

PMID:
19064875
31.

A survey to determine public opinion about the ethics and governance of farm animal welfare.

Lusk JL, Norwood FB.

J Am Vet Med Assoc. 2008 Oct 1;233(7):1121-6. doi: 10.2460/javma.233.7.1121.

PMID:
18828724
32.

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease).

Dlamini N, Jan W, Norwood F, Sheehan J, Spahr R, Al-Sarraj S, Anthony Hulse J, Hughes D, Champion MP, Jungbluth H.

Neuromuscul Disord. 2008 May;18(5):408-9. doi: 10.1016/j.nmd.2008.02.006. Epub 2008 Apr 22. No abstract available.

PMID:
18434155
33.

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.

Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K; EFNS Guideline Task Force.

Eur J Neurol. 2007 Dec;14(12):1305-12. Review.

PMID:
18028188
34.
35.

The limb-girdle muscular dystrophies--diagnostic strategies.

Bushby K, Norwood F, Straub V.

Biochim Biophys Acta. 2007 Feb;1772(2):238-42. Epub 2006 Oct 3.

37.

An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin.

Sutherland-Smith AJ, Moores CA, Norwood FL, Hatch V, Craig R, Kendrick-Jones J, Lehman W.

J Mol Biol. 2003 May 23;329(1):15-33.

PMID:
12742015
38.

Access of target groups to 1915(c) Medicaid home and community based waiver services.

Harrington C, Carrillo H, Wellin V, Norwood F, Miller N.

Home Health Care Serv Q. 2001;20(2):61-80.

PMID:
11987655
39.
40.

Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer.

Keep NH, Winder SJ, Moores CA, Walke S, Norwood FL, Kendrick-Jones J.

Structure. 1999 Dec 15;7(12):1539-46.

41.

The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin.

Keep NH, Norwood FL, Moores CA, Winder SJ, Kendrick-Jones J.

J Mol Biol. 1999 Jan 22;285(3):1257-64.

PMID:
9887274
42.

Amniotic band syndrome: a population-based study in two Australian states.

Bower C, Norwood F, Knowles S, Chambers H, Haan E, Chan A.

Paediatr Perinat Epidemiol. 1993 Oct;7(4):395-403.

PMID:
8290379

Supplemental Content

Loading ...
Support Center